Canonical Allele Identifier: CA50397380

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452576A>G , CM000664.2:g.73452576A>G	GRCh38
NC_000002.11:g.73679703A>G , CM000664.1:g.73679703A>G	GRCh37
NC_000002.10:g.73533211A>G	NCBI36
NG_011690.1:g.71824A>G , LRG_741:g.71824A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6049A>G MANE Select	NP_001365383.1:p.Ser2017Gly
ENST00000613296.6:c.6049A>G MANE Select	ENSP00000482968.1:p.Ser2017Gly
NM_015120.4:c.6052A>G , LRG_741t1:c.6052A>G	NP_055935.4:p.Ser2018Gly
ENST00000423048.5:c.880A>G	ENSP00000399833.1:p.Ser294Gly
ENST00000484298.5:c.5923A>G	ENSP00000478155.1:p.Ser1975Gly
ENST00000613296.4:c.6049A>G	ENSP00000482968.1:p.Ser2017Gly
ENST00000614410.4:c.6049A>G	ENSP00000479094.1:p.Ser2017Gly
ENST00000682565.1:c.5668A>G	ENSP00000507671.1:p.Ser1890Gly
ENST00000682801.1:c.5668A>G	ENSP00000507862.1:p.Ser1890Gly
ENST00000682859.1:c.5668A>G	ENSP00000508222.1:p.Ser1890Gly
ENST00000683791.1:c.685+20285A>G
ENST00000684197.1:n.1018A>G
ENST00000684460.1:c.3120A>G
ENST00000684548.1:c.5668A>G	ENSP00000507421.1:p.Ser1890Gly
ENST00000684590.1:c.166A>G	ENSP00000507376.1:p.Ser56Gly
ENST00000684656.1:c.3120A>G